Abstract Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes. Amyloid deposition has been demonstrated in the glomerular and tubulointerstitial compartments of the kidney. Therefore, urinary acidification disorders such as renal tubular acidosis (RTA) may be early manifestations of renal involvement in this population. Objective: To evaluate the prevalence of RTA in individuals with ATTRv. Methods: We included symptomatic and asymptomatic individuals with TTR mutation, older than 18 years, GFR >45 mL/min/1.73m2, without systemic metabolic acidosis. Urinary acidification protocol was performed with furosemide and fludrocortisone after 12 h of water deprivation (water deprivation test - WDT) and measurements of urine ammonium ( UNH 4 +) and titratable acidity (UTA). Proximal RTA (pRTA) was diagnosed when FEHCO3>10%. Incomplete form distal RTA (dRTA) was diagnosed if UpH>5.3. Results: We selected 49 individuals with a mean age of 40 (35.5–56.5) years, 63% of which were female, 84% were Caucasian, and mean GFR was 85.5 ± 20.5 mL/min/1.73m2. 94% had the genetic variant Val50Met and 57% were symptomatic. The prevalence of pRTA was 2% and of dRTA was 16.3%. In the subgroup with dRTA, there was no significant increase in excretion of UNH 4 + and UTA. We observed a good correlation between UpH by potentiometry and UpH dipstick. A UpH<5.5 on the dipstick had 100% sensitivity and negative predictive value to exclude dRTA. Conclusion: A high prevalence of RTA was found in individuals with TTR mutations. The UpH dipstick after WDT had good accuracy for screening for dRTA. Further studies are needed to evaluate the impact of early diagnosis and treatment of RTA in this population. Introduction ATTRv (ATTRv disease systems heart kidneys eyes kidney Therefore (RTA population Objective Methods mutation 1 years 45 >4 mLmin173m2 mLminm mL min 73m2 m mL/min/1.73m2 UTA . (UTA) (pRTA FEHCO310 FEHCO FEHCO3 10 FEHCO3>10% (dRTA UpH53 5 3 UpH>5.3 Results 35.5–56.5 355565 35 56 (35.5–56.5 63 female 84 Caucasian 855 85 85. 205 20 20. 94 ValMet Val Met 57 2 163 16 16.3% UpH55 UpH<5. 100 Conclusion mutations > mLmin mLmin173m 73m mL/min/1.73m (UTA FEHCO31 FEHCO3>10 UpH5 UpH>5. 35.5–56. 35556 (35.5–56. 6 8 9 16.3 UpH<5 FEHCO3>1 UpH>5 35.5–56 3555 (35.5–56 16. UpH< FEHCO3> UpH> 35.5–5 355 (35.5–5 35.5– (35.5– 35.5 (35.5 35. (35. (35 (3

Resumo Introdução: A amiloidose hereditária por transtirretina (ATTRv) é uma doença sistêmica autossômica dominante grave. Afeta os sistemas nervoso periférico e autônomo, coração, rins e olhos. A deposição de amiloide foi demonstrada nos compartimentos glomerular e tubulointersticial do rim. Portanto, distúrbios de acidificação urinária, como acidose tubular renal (ATR), podem ser manifestações precoces de envolvimento renal nessa população. Objetivo: Avaliar a prevalência de ATR em indivíduos com ATTRv. Métodos: Incluímos indivíduos sintomáticos e assintomáticos com mutação na TTR, maiores de 18 anos, TFG >45 mL/min/1,73m2, sem acidose metabólica sistêmica. Realizou-se protocolo de acidificação urinária com furosemida e fludrocortisona após 12 horas de privação hídrica (teste de restrição hídrica - TRH) e medições de amônia urinária ( uNH 4 +) e acidez titulável (uTA) na urina. ATR proximal (ATRp) foi diagnosticada quando FEHCO3>10%. ATR distal (ATRd) de forma incompleta foi diagnosticada se pHu>5,3. Resultados: Selecionamos 49 indivíduos com idade média de 40 (35,5–56,5) anos, 63% mulheres, 84% caucasianos e TFG média de 85,5 ± 20,5 mL/min/1,73m2. 94% apresentaram a variante genética Val50Met; 57% eram sintomáticos. A prevalência de ATRp foi 2% e a de ATRd foi 16,3%. No subgrupo com ATRd, não houve aumento significativo na excreção de uNH 4 + e uTA. Observamos uma boa correlação entre pHU por potenciometria e pHU por fita reagente. Um pHU<5,5 na fita reagente apresentou 100% de sensibilidade e valor preditivo negativo para excluir a ATRd. ConclusÃO: Uma alta prevalência de ATR foi encontrada em indivíduos com mutações na TTR. O pHU por fita reagente após TRH teve boa precisão para triagem de ATRd. São necessários mais estudos para avaliar o impacto do diagnóstico e tratamento precoces da ATR nessa população. Introdução ATTRv (ATTRv grave autônomo coração olhos rim Portanto ATR, , (ATR) população Objetivo Métodos TTR 1 anos 45 >4 mLmin173m2 mLminm mL min 73m2 m mL/min/1,73m2 Realizouse Realizou teste uTA (uTA urina (ATRp FEHCO310 FEHCO FEHCO3 10 FEHCO3>10% (ATRd pHu53 pHu 5 3 pHu>5,3 Resultados 35,5–56,5 355565 35 56 (35,5–56,5 63 mulheres 84 855 85 85, 205 20 20, 94 Val50Met ValMet Val Met 57 2 163 16 16,3% pHU55 pHU<5, 100 ConclusÃO (ATR > mLmin mLmin173m 73m mL/min/1,73m FEHCO31 FEHCO3>10 pHu5 pHu>5, 35,5–56, 35556 (35,5–56, 6 8 9 16,3 pHU5 pHU<5 FEHCO3>1 pHu>5 35,5–56 3555 (35,5–56 16, pHU< FEHCO3> pHu> 35,5–5 355 (35,5–5 35,5– (35,5– 35,5 (35,5 35, (35, (35 (3

Resumen Introducción. La principal medida de control de la mancha marrón (MM) causada por Septoria glycines, se realiza mediante la aplicación de fungicida foliar, sin embargo, el manejo de la enfermedad podría realizarse con prácticas de manejo cultural y genético. Objetivo. Analizar la evolución de la MM de la soja en diferentes sistemas de producción. Materiales y métodos. Este estudio se llevó a cabo durante dos años consecutivos (2020 y 2022), en la localidad de Pergamino, Buenos Aires, sobre un cultivar de soja DM46i20. Las variables de manejo fueron cultivos de cobertura (CC), rotaciones (Rt), momento de aplicación del fungicida foliar (MAFF). La variable patométrica evaluada fue el área bajo la curva de progreso de la altura de la planta con síntomas (ABCPAPS) y como variable cuantitativa fisiología sobre el cultivo el rendimiento (R) en granos en kg/ha. Resultados. Las prácticas de manejo agronómico tuvieron un efecto significativo (p≤0,05) sobre el R y el ABCPAPS. Las variables CC y MAFF fueron independientes y presentaron una repuesta significativa (p<0,0001) sobre el R. En cambio, hubo una triple interacción significativa (p<0,0001) entre los CC, las Rt y el MAFF para el ABCPAPS y, por lo tanto, los datos fueron explicados con base en esta relación. Conclusiones. La implementación de cultivos de cobertura, de rotaciones de cultivo y de fungicida foliar, redujeron significativamente (p≤0,05) la evolución de la MM en el cultivo de soja. Hubo una correlación negativa y significativa (p≤0,05) entre el rendimiento en soja y el área bajo la curva de progreso de la altura de la planta con síntomas de la MM.

Abstract Introduction. The main control measure for brown spot (BS) caused by Septoria glycines is through the application of foliar fungicide. However, the management of the disease could be accomplished through cultural and genetic practices. Objective. To analyze the evolution of BS in soybean under different production systems. Materials and methods. This study was conducted for two consecutive years (2020 and 2022), in Pergamino, Buenos Aires, using the soybean cultivar DM46i20. The management variables studied were cover crops (CC), rotations (Rt), and timing of foliar fungicide application (MAFF). The evaluated pathometric variable was the area under the progress curve of plant height with symptoms (ABCPAPS), and the quantitative physiology variable was grain yield (R) in kg/ha. Results. Agronomic management practices had a significant effect (p≤0.05) on R and ABCPAPS. CC and MAFF were independent variables and showed a significant response (p<0.0001) on R. On the other hand, there was a significant triple interaction (p<0.0001) among CC, Rt, and MAFF for ABCPAPS, and therefore, the data were explained based on this relationship. Conclusions. The implementation of cover crops, crop rotations, and foliar fungicide significantly reduced (p≤0.05) the evolution of BS in soybean cultivation. There was a significant negative correlation (p≤0.05) between soybean yield and the area under the progress curve of the plant height with BS symptoms.

Abstract Background Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. Objectives This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. Methods This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05. Results The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028). Study limitations Cross-sectional study, conducted with a convenience sample and using self-reported measures. Conclusions The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling. NF (NF1 manifestations consequences crosssectional cross sectional 10 INF1QoL, INF1QoL INFQoL INF1 QoL , INF (INF1-QoL) selfevaluation self evaluation scale testing 005 0 05 0.05 5 3554 35 54 35.5 ±9.63 963 9 63 (±9.63 n 84 83.17%. 8317 83.17% . 83 17 83.17%) 1062 62 10.6 ±5.63, 563 ±5.63 (±5.63) 3 points 0.003 0003 003 0.019. 0019 0.019 019 0.019) rho 0.218 0218 218 0.028. 0028 0.028 028 0.028) Crosssectional Cross selfreported reported measures followup follow up patients control assistance counseling (NF (INF1-QoL 00 0.0 355 35. ±9.6 96 6 (±9.6 8 831 83.17 106 10. 56 ±5.6 (±5.63 0.00 000 001 0.01 01 0.21 021 21 002 0.02 02 0. ±9. (±9. 83.1 ±5. (±5.6 0.2 2 ±9 (±9 83. ±5 (±5. ± (± (±5 (

Abstract In some areas of Oaxaca, Mexico, it is necessary to implement plantations that use seeds of genetic quality, to increase productivity and phenotypic quality. The objective was to select outstanding phenotypes of Pinus chiapensis (Martínez) Andresen and P. douglasiana Martínez, evaluating quantitative and qualitative characteristics. In 2021, 15 superior phenotypes per species were selected to evaluate inventory variables (height, diameter), density (trees ha-1), age and chip increments, recording climate and site data. Crown area (m2), basal area (m2) and total volume with bark (VTcc, m3) were determined for each tree; site index (SI) was determined based on anamorphic curves, density guides and average VTcc. Data were analyzed with Student's t tests, Pearson's correlation (( = 0.05), cluster analysis, and principal component analysis. The species showed significant differences (p ≤ 0.01) in dasometric characteristics. Using the average volume as a selection criterion, six P. chiapensis trees presented volumes above average (≥ 9.76 m3) and seven P. douglasiana trees presented volume above average (> 4.14 m3) and clear stem height (18.7 m), in places with high precipitation; while comparing morphological, of site and climatic characteristics, 10 individuals of P. chiapensis and six of P. douglasiana with excellent quality IS were selected. The selected trees have outstanding characteristics of wood quality and volume, so it is convenient to use them to collect seeds in the study area.

Resumen En algunas zonas de Oaxaca, México se requiere implementar plantaciones que usen semillas de calidad genética, para aumentar productividad y calidad fenotípica. El objetivo fue seleccionar fenotipos sobresalientes de Pinus chiapensis (Martínez) Andresen y P. douglasiana Martínez, a través de sus características cuantitativas y cualitativas. En 2021 se seleccionaron 15 fenotipos superiores por especie, para evaluar variables dasométricas (altura, diámetro), densidad (árboles ha-1), edad e incrementos en virutas, registro de datos climáticos y de sitio. En cada árbol se determinó área de copa (m2), área basal (m2) y volumen total con corteza (VTcc, m3); se determinó índice de sitio (IS) con base a curvas anamórficas, guías de densidad y promedio de VTcc. Los datos se analizaron con pruebas t-Student, correlación de Pearson (( = 0.05), análisis clúster y análisis de componentes principales. Las especies mostraron diferencias significativas (p ≤ 0.01) en características dasométricas. Al utilizar el volumen promedio como criterio de selección seis árboles de P. chiapensis presentaron volúmenes superiores al promedio (≥ 9.76 m3) y siete árboles de P. douglasiana obtuvieron mayor volumen al promedio (> 4.14 m3) y altura de fuste limpio (18.7 m), en sitios con alta precipitación; mientras que, comparando características morfológicas, de sitio y climáticas, se seleccionaron 10 individuos de P. chiapensis y seis de P. douglasiana con IS de excelente calidad. Los árboles seleccionados tienen características sobresalientes de calidad de madera y volumen, por lo que conviene usarlos para colectar semilla en la zona de estudio.

Abstract Dowling-Degos disease (DDD) is an uncommon genodermatosis. The most closely associated disorder is Galli-Galli disease (GGD). Both conditions are considered on the same disease spectrum, with the differentiating factor being the presence of acantholysis in GGD. A 51-year-old female with a 21-year history of pruritic eruption in flexural areas progressing to the trunk and limbs presented to our dermatology consult. Physical examination revealed reddish-to-dark brown hyperkeratotic papules and reticulated confluent macules. Dermoscopy showed irregular star-shaped brown mottled areas and yellow-brown polygonal structures. Histopathology confirmed features consistent with GGD. Genetic screening identified a mutation in the POGLUT1 gene. Treatment with topical clobetasol propionate 0.05% and oral antihistamines decreased pruritus, but the skin eruption persisted. We present a rare case of GGD describing clinical, genetic, dermoscopy, and histopathological features. Clinicopathological correlation and good cooperation between dermatologists and histopathologists are essential to make the correct diagnosis of GGD.

Resumo A doença de Dowling-Degos (DDD) é uma genodermatose rara, associada à doença de Galli-Galli (GGD). O fator de diferenciação entre as duas doenças é um critério histopatológico com a presença de acantólise no caso da GGD. Mulher de 51 anos, fototipo de Fitzpatrick II, recorreu à consulta de Dermatologia por uma dermatose generalizada e pruriginosa com 21 anos de evolução, com início nas pregas e progressão o tronco e membros. Ao exame objetivo observaram-se máculas e pápulas, castanho-alaranjadas, confluentes, de aspecto reticulado que predominavam no tronco e membros. A dermatosocopia das lesões mostrou áreas irregulares em estrela de coloração castanha e estruturas poligonais amareloacastanahdas, circundadas por halos esbranquiçados. A biópsia cutânea foi compatível com GGD. O estudo genético identificou uma mutação no gene POGLUT1. Este artigo ilustra um caso raro de GGD, descrevendo suas características clínicas, genéticas, dermatoscópicas e histopatológicas. A correlação clinicopatológica é essencial para o diagnóstico de GGD.

ABSTRACT: Capsicum chinense, is a species of chili native to Peru, considered a culinary symbol in the La Libertad region, for its culinary characteristics, such as its distinctive aroma, high heat, uniform fruits, attractive color and significant resistance to pests, in addition to require little care during cultivation. Given the need to carry out research that favors the improvement of cultivable species, the research objective was to determine the correlation between the development of the floral bud and the stage from uninucleate to binucleate in Capsicum chinense "ají mochero". This activity was carried out by staining the anthers of 200 randomly selected ají mochero floral buds with the acetic orcein dye. The results revealed that the floral buds of Capsicum chinense "ají mochero" that are related to the uninucleate microspore phase have lengths ranging between 3.744 and 3.976 millimeters, with diameters of 2.644 to 2.828 millimeters. Similarly, the floral buds associated with the binucleate microspore phase are found in the length range of 4.674 to 4.917 millimeters and diameters of 2.923 to 3.001 millimeters. It is concluded that There is a positive correlation between the development of the floral bud and the binucleate stage of C. chinense "ají mochero", therefore, buds that have a corolla slightly smaller than the calyx are ideal for initiating an androgenesis process, which would contribute to the genetic improvement of C. chinense by obtaining pure lines.

RESUMEN: Capsicum chinense es una especie de ají originario de Perú, considerado un símbolo culinario en la región de La Libertad, por sus características culinarias, como su aroma distintivo, alto picor, frutos uniformes, atractivo color y una resistencia significativa a plagas, además de requerir pocos cuidados durante su cultivo. Ante la necesidad de realizar investigaciones que favorezcan con el mejoramiento de especies cultivables, se planteó como objetivo de investigación determinar la correlación entre desarrollo del pimpollo floral y el estadio de uninucleado a binucleado en Capsicum chinense "ají mochero”. Esta actividad se llevó a cabo mediante la tinción de anteras de 200 capullos florales de ají mochero seleccionados al azar, con la colorante orceína acética. Los resultados revelaron que los pimpollos florales de Capsicum chinense "ají mochero" que están relacionados con la fase de microsporas uninucleadas tienen longitudes que oscilan entre 3,744 y 3,976 milímetros, con diámetros de 2,644 a 2,828 milímetros. De manera similar, los pimpollos florales asociados con la fase de microsporas binucleadas se encuentran en el rango de longitud de 4,674 a 4,917 milímetros y diámetros de 2,923 a 3,001 milímetros. Se concluye que existe una correlación positiva entre el desarrollo del pimpollo floral y el estadío a binucleado de C. chinense "ají mochero", por tanto, los pimpollos que poseen corola ligeramente más pequeña que el cáliz, son ideales para iniciar un proceso de androgénesis, el cual contribuiría con el mejoramiento genético de C. chinense al obtenerse líneas puras.

ABSTRACT Although soybean is one of the most important agricultural commodities in the world, it has been losing genetic diversity in recent decades, due to the intense breeding process and reproduction method. Thus, the objective of this study was to evaluate the agronomic performance and estimate the genetic diversity among inbred lines, and identify promising crossings. A total of 66 soybean genotypes were evaluated, 61 of which were pre-commercial lines, and five commercial cultivars (AS3797, DESAFIO, M7110, M7739, M8210) as controls. The experimental design consisted of randomized blocks with three replicates. The distance matrix between the inbred lines was calculated by Mahalanobis distance and grouping by the unweighted pair group method with arithmetic mean (UPGMA). The maximum distance was 1,776.26 between cultivar M7110 and the G23 inbred line, and the minimum 1.50 between inbred lines G13 and G36, with an average distance of 364.40, demonstrating genetic diversity. The traits that contributed most to genetic divergence were number of days to flowering (66.7%) and physiological maturation (28.55%). Inbred lines G60 (higher grain yield), G51 and G33 (lower physiological maturation) and cultivar M7110 (greater divergence) stood out. Four groups were formed, with G1 having the highest grain yield and fewest days to flowering and physiological maturation. The indicated crossings are between G60, G57, CD2728, M7110, G33 and G32 (group G1) and G47 (group G4). world decades Thus 6 evaluated precommercial pre AS3797, AS3797 AS (AS3797 DESAFIO M M7739 M8210 controls replicates UPGMA. UPGMA . (UPGMA) 177626 1 776 26 1,776.2 M711 G G2 line 150 50 1.5 G36 36440 364 40 364.40 66.7% 667 7 (66.7% 28.55%. 2855 28.55% 28 55 (28.55%) G6 higher yield, , yield) G5 G3 lower greater out formed G57 CD2728 CD G4 G4. G4) AS379 (AS379 M773 M821 (UPGMA 17762 77 2 1,776. M71 15 5 1. 3644 36 4 364.4 66.7 (66.7 285 28.55 (28.55% CD272 AS37 (AS37 M77 M82 1776 1,776 M7 3 364. 66. (66. 28.5 (28.55 CD27 AS3 (AS3 M8 177 1,77 (66 28. (28.5 CD2 (AS 17 1,7 (6 (28. 1, ( (28 (2

RESUMO A soja é uma das mais importantes comodities agrícolas mundiais, no entanto, devido ao intenso processo de melhoramento e sua forma de reprodução, vem perdendo diversidade genética ao longo das últimas décadas. Assim, o objetivo deste estudo foi avaliar o desempenho agronômico, estimar a diversidade genética entre as linhagens e identificar cruzamentos promissores. Para isto, foram avaliados 66 genótipos de soja, sendo 61 linhagens pré-comerciais e cinco cultivares comerciais (AS3797, DESAFIO, M7110, M7739, M8210) como controles. O delineamento experimental foi o de blocos ao acaso com três repetições. A matriz de distância entre as linhagens foi calculada pela distância de Mahalanobis e o agrupamento pelo método da ligação média entre grupos (UPGMA). A distância máxima foi de 1.776,26 entre as linhagens M7110 e G23, e a mínima de 1,50 entre as linhagens G13 e G36, sendo a distância média de 364,40, demonstrando a existência de diversidade genética. Os caracteres que mais contribuíram para a divergência genética foram número de dias para o florescimento (66,7%) e maturação fisiológica (28,55%). As linhagens G60 (maior produtividade de grãos), G51 e G33 (menor maturação fisiológica) e a cultivar M7110 (maior divergência) se destacaram. Formaram-se quatro grupos, sendo o grupo G1 com maior produtividade de grãos e menor número de dias para o florescimento e maturação fisiológica. Os cruzamentos indicados são entre G60, G57, CD2728, M7110, G33 e G32 (grupo G1) com a G47 (grupo G4). mundiais entanto reprodução décadas Assim agronômico promissores isto 6 précomerciais pré AS3797, AS3797 AS (AS3797 DESAFIO M M7739 M8210 controles repetições UPGMA. UPGMA . (UPGMA) 177626 1 776 26 1.776,2 M711 G23 G 150 50 1,5 G36 36440 364 40 364,40 66,7% 667 7 (66,7% 28,55%. 2855 28,55% 28 55 (28,55%) G6 grãos, , grãos) G5 G3 destacaram Formaramse Formaram G57 CD2728 CD G4 G4. G4) AS379 (AS379 M773 M821 (UPGMA 17762 77 2 1.776, M71 G2 15 5 1, 3644 36 4 364,4 66,7 (66,7 285 28,55 (28,55% CD272 AS37 (AS37 M77 M82 1776 1.776 M7 3 364, 66, (66, 28,5 (28,55 CD27 AS3 (AS3 M8 177 1.77 (66 28, (28,5 CD2 (AS 17 1.7 (6 (28, 1. ( (28 (2

Abstract: Sickle cell anemia (SCA) is the most common genetic disease worldwide. There are countries with massive public health programs for early detection of this condition. In the literature, several specific haplotypes or single-base polymorphic variants (SNPs) have been associated with the SCA prognosis. Objective: To demonstrate the significant correlation of SNPs relevant to the diagnosis and prognosis of SCA among different ethnic groups. Methodology: we analyzed population frequencies and correlations of several SNPs related to the prognosis of SCA (i.e., baseline fetal hemoglobin levels), response to hydroxyurea treatment, and response to other drugs used in the SCA treatment, collected from validated genomic databases among different ethnic groups. Results: The calculation of the Hardy-Weinberg equilibrium and the logistic regression was successful in classifying the ethnic groups as African (0 = 0.78, 1 = 0.89), and with a lower efficiency as American (AMR) (0 = 0.88, 1 = 0.00), East Asian (EAS) (0 = 0.80, 1 = 0.00), European (EUR) (0 = 0.79, 1 = 0.00), and South Asian (SAS) (0 = 0.80, 1 = 0.00). Conclusions: The results extend those from previous reports and show that the profile of most of the SNPs studied presented statistically significant distributions among general ethnic groups, pointing to the need to carry out massive early screening of relevant SNPs for SCA in patients diagnosed with this disease. It is concluded that the application of a broad mutation detection program will lead to a more personalized and efficient response in the treatment of SCA.

Resumen: La anemia falciforme (AF) es la enfermedad genética más frecuente del mundo. Hay países con programas de salud pública masivos para la detección temprana esta condición. Varios haplotipos específicos y polimorfismos de una sola base (SNPs) se han asociado en la literatura con la prognosis de AF. Objetivo: Demostrar la correlación significativa de SNPS relevantes para el diagnóstico y prognosis de AF entre diferentes grupos étnicos. Metodología: se analizaron las frecuencias poblacionales y correlaciones entre varios SNPs relevantes para la prognosis de AF (ej: niveles basales de hemoglobina fetal), respuesta a tratamiento con hydroxiurea y respuesta a otras drogas utilizadas en el tratamiento de AF. Los datos fueron obtenidos de bases de datos genómicos validadas entre diferentes grupos étnicos. Resultados: Los cálculos del equilibrio de Hardy-Weinberg y la regresión logística fue exitosa en clasificar los grupos étnicos, Africano (0 = 0,78, 1 = 0,89), y con menor eficiencia; Americano (AMR) (0 = 0,88, 1 = 0,00), Asia del Este (EAS) (0 = 0,80, 1 = 0,00), Europeo (EUR) (0 = 0,79, 1 = 0,00), y Sud-Asiático (SAS) (0 = 0,80, 1 = 0,00). Conclusiones: Estos resultados, extienden los trabajos previos y muestran que el perfil de mutaciones de la mayoría de los SNPs analizados, presenta distribuciones estadísticamente significativas entre grupos étnicos generales, apuntando a la necesidad de realizar programas de testeo masivo de SNPs para AF en pacientes diagnosticados con esta patología. Se concluye que la aplicación de un programa amplio de genotipificación de mutación generara una respuesta más eficiente y personalizada en el tratamiento de AF.

Abstract Introduction and objective: To demonstrate the value of the axial plane of the posterior complex, as a clue for the antenatal detection of synthelencephaly, a variant of holoprosencephaly. Method: All patients diagnosed with syntelencephaly evaluated since 2008 were included. In all cases, clinical, neurosonography (NSG), magnetic resonance imaging (MRI) and genetic data were recorded. Results: Four cases were diagnosed in the second trimester and in all of them a genetic study and MRI were performed. Three had extra-CNS anomalies in their evolution and two of them chromosomal anomalies, one of them incompatible with extrauterine life. Neuroimaging findings described for this condition were detected by NSG, with an excellent correlation with MRI, whether the latter was performed in the fetal or postnatal period. Conclusion: The prenatal diagnosis of holoprosencephaly variants is difficult, considering the existence of a more limited medial fusion than in the classical forms. The present study demonstrates the usefulness of the posterior complex plane for the diagnostic suspicion of synthelencephaly.

Resumen Introducción y objetivo: Demostrar el valor del plano axial del complejo posterior, como apoyo a la detección antenatal de sintelencefalia, variante de holoprosencefalia. Método: Se incluyeron todas las pacientes con diagnóstico de sintelencefalia evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de neurosonografía (NSG), de resonancia magnética (RM) y genética. Resultados: Cuatro casos fueron diagnosticados en el segundo trimestre y en todos se realizó estudio genético y RM. Tres tuvieron en su evolución anomalías extra-SNC y dos de ellos alteraciones cromosómicas, una de ellas incompatible con la vida extrauterina. Lo hallazgos descritos en neuroimagen para esta afección fueron detectados en la NSG, con una excelente correlación con RM, ya fuera esta última realizada en periodo fetal o posnatal. Conclusión: El diagnóstico prenatal de variantes de holoprosencefalia es difícil, considerando la existencia de una fusión medial más acotada que en las formas clásicas. El presente estudio demuestra la utilidad del plano del complejo posterior para la sospecha diagnóstica de sintelencefalia.

Resumen: La anemia falciforme (AF) es la enfermedad genética más frecuente del mundo. Hay países con programas de salud pública masivos para la detección temprana esta condición. Varios haplotipos específicos y polimorfismos de una sola base (SNPs) se han asociado en la literatura con la prognosis de AF. Objetivo: Demostrar la correlación significativa de SNPS relevantes para el diagnóstico y prognosis de AF entre diferentes grupos étnicos. Metodología: se analizaron las frecuencias poblacionales y correlaciones entre varios SNPs relevantes para la prognosis de AF (ej: niveles basales de hemoglobina fetal), respuesta a tratamiento con hydroxiurea y respuesta a otras drogas utilizadas en el tratamiento de AF. Los datos fueron obtenidos de bases de datos genómicos validadas entre diferentes grupos étnicos. Resultados: Los cálculos del equilibrio de Hardy-Weinberg y la regresión logística fue exitosa en clasificar los grupos étnicos, Africano (0 = 0,78, 1 = 0,89), y con menor eficiencia; Americano (AMR) (0 = 0,88, 1 = 0,00), Asia del Este (EAS) (0 = 0,80, 1 = 0,00), Europeo (EUR) (0 = 0,79, 1 = 0,00), y Sud-Asiático (SAS) (0 = 0,80, 1 = 0,00). Conclusiones: Estos resultados, extienden los trabajos previos y muestran que el perfil de mutaciones de la mayoría de los SNPs analizados, presenta distribuciones estadísticamente significativas entre grupos étnicos generales, apuntando a la necesidad de realizar programas de testeo masivo de SNPs para AF en pacientes diagnosticados con esta patología. Se concluye que la aplicación de un programa amplio de genotipificación de mutación generara una respuesta más eficiente y personalizada en el tratamiento de AF.

Abstract: Sickle cell anemia (SCA) is the most common genetic disease worldwide. There are countries with massive public health programs for early detection of this condition. In the literature, several specific haplotypes or single-base polymorphic variants (SNPs) have been associated with the SCA prognosis. Objective: To demonstrate the significant correlation of SNPs relevant to the diagnosis and prognosis of SCA among different ethnic groups. Methodology: we analyzed population frequencies and correlations of several SNPs related to the prognosis of SCA (i.e., baseline fetal hemoglobin levels), response to hydroxyurea treatment, and response to other drugs used in the SCA treatment, collected from validated genomic databases among different ethnic groups. Results: The calculation of the Hardy-Weinberg equilibrium and the logistic regression was successful in classifying the ethnic groups as African (0 = 0.78, 1 = 0.89), and with a lower efficiency as American (AMR) (0 = 0.88, 1 = 0.00), East Asian (EAS) (0 = 0.80, 1 = 0.00), European (EUR) (0 = 0.79, 1 = 0.00), and South Asian (SAS) (0 = 0.80, 1 = 0.00). Conclusions: The results extend those from previous reports and show that the profile of most of the SNPs studied presented statistically significant distributions among general ethnic groups, pointing to the need to carry out massive early screening of relevant SNPs for SCA in patients diagnosed with this disease. It is concluded that the application of a broad mutation detection program will lead to a more personalized and efficient response in the treatment of SCA.

Abstract The exploitation of plant genetic resources is an important and rapid strategy to release commercial cultivars. In this study, 234 sour cherry genotypes were collected from various locations of Iran and phenotypically assessed according to IPGRI and UPOV descriptors. The genotypes were grafted onto Mahaleb rootstock and were planted in Horticultural Science Research Institute (HSRI) core collection in Karaj, Iran. In this study, 22 different characteristics were measured in the sour cherry genotypes. The results showed that fruit and stone weights varied from 1.65 (G410) to 5.47 g (G125) and 0.13 (G428) to 0.59 g (G149), respectively. The fruit size index comprised average fruit length, width, and diameter, which varied from 10.57 to 19.13. The stalk length was less than 50 mm in 90.6% of the studied genotypes. Twelve of the 234 studied genotypes did not exhibit any symptoms of bacterial canker disease. Principle component analysis (PCA) and cluster analysis classified the studied genotypes into four main groups. Spearman’s correlation analysis revealed that fruit size, stone shape, stone size, stalk thickness and weight, and fruit appearance correlated positively with stone and fruit weights. In contrast, fruit juice, fruit skin, and flesh color correlated negatively with the stone and fruit weights. The range of TSS varied between 12.66 (G251) and 26 (G427). Variations in pH value were between 3.66 (G236) and 5.63 (G352). In conclusion, a high level of genetic diversity was observed among the Iranian sour cherry genotypes. This diversity can be considered valuable and applicable for future breeding programs. cultivars study 23 descriptors HSRI (HSRI Karaj 2 165 1 65 1.6 G410 G (G410 547 5 47 5.4 G125 (G125 013 0 13 0.1 G428 (G428 059 59 0.5 G149, G149 , (G149) respectively width diameter 1057 10 57 10.5 1913 19 19.13 906 90 6 90.6 disease PCA (PCA groups Spearmans Spearman s shape weight contrast juice skin 1266 12 66 12.6 G251 (G251 G427. G427 . (G427) 366 3 3.6 G236 (G236 563 63 5.6 G352. G352 (G352) conclusion programs 16 1. G41 (G41 54 4 5. G12 (G12 01 0. G42 (G42 05 G14 (G149 105 10. 191 19.1 9 90. 126 12. G25 (G25 (G427 36 3. G23 (G23 56 G35 (G352 G4 (G4 G1 (G1 (G14 19. G2 (G2 G3 (G35 (G (G3

Resumo A exploração de recursos fitogenéticos é uma estratégia importante e rápida para liberar cultivares comerciais. Neste estudo, 234 genótipos de ginja foram coletados de vários locais do Irã e avaliados fenotipicamente conforme os descritores IPGRI e UPOV. Os genótipos foram enxertados no porta-enxerto Mahaleb e foram plantados na coleção principal do Horticultural Science Research Institute (HSRI) em Karaj, Irã. Neste estudo, 22 características diferentes foram medidas nos genótipos de acerola. Os resultados mostraram que os pesos dos frutos e caroços variaram de 1,65g (G410) a 5,47g (G125) e 0,13g (G428) a 0,59g (G149), respectivamente. O índice de tamanho do fruto compreendeu o comprimento médio, largura e diâmetro do fruto, que variou de 10,57 a 19,13. O comprimento do colmo foi inferior a 50 mm em 90,6% dos genótipos estudados. Doze dos 234 genótipos estudados não apresentaram nenhum sintoma de cancro bacteriano. A análise de componentes principais (PCA) e a análise de cluster classificaram os genótipos estudados em quatro grupos principais. Já a análise de correlação de Spearman revelou que o tamanho do fruto e do caroço, formato do caroço, espessura e peso do caule, e aparência do fruto correlacionaram-se positivamente com o peso do caroço e do fruto. Em contraste, suco de fruta, casca de fruta e cor de polpa correlacionaram-se negativamente com os pesos de caroço e fruta. A faixa de TSS variou entre 12,66 (G251) e 26 (G427). As variações no valor do pH ficaram entre 3,66 (G236) e 5,63 (G352). Em conclusão, um alto nível de diversidade genética foi observado entre os genótipos de ginja iraniana. Essa diversidade pode ser considerada valiosa e aplicável para futuros programas de melhoramento. comerciais estudo 23 UPOV portaenxerto porta enxerto HSRI (HSRI Karaj 2 acerola 165g g 1 65g G410 G (G410 547g 5 47g G125 (G125 013g 0 13g G428 (G428 059g 59g G149, G149 , (G149) respectivamente médio 1057 10 57 10,5 1913 19 13 19,13 906 90 6 90,6 bacteriano PCA (PCA caule correlacionaramse correlacionaram se contraste 1266 12 66 12,6 G251 (G251 G427. G427 . (G427) 366 3 3,6 G236 (G236 563 63 5,6 G352. G352 (G352) conclusão iraniana melhoramento G41 (G41 G12 (G12 G42 (G42 G14 (G149 105 10, 191 19,1 9 90, 126 12, G25 (G25 (G427 36 3, G23 (G23 56 5, G35 (G352 G4 (G4 G1 (G1 (G14 19, G2 (G2 G3 (G35 (G (G3

ABSTRACT: The use of resistant wheat cultivars is a fundamental strategy to minimize the damages caused by blast, a disease caused by the fungus Pyricularia oryzae Triticum (PoT). The objetive of this stydy was to (a) evaluate the reaction to blast of Brazilian wheat cultivars and (b) determine whether there is correlation between severity of symptoms on wheat spikes and “sporulation rate of PoT conidia per gram of wheat spike rachis” (Rscon). Plants of 16 wheat cultivars were grown in greenhouse until flowering (Zadoks stage 65), when their spikes were inoculated with a suspension formed by mixing the conidia of three PoT isolates. The evaluated variables were blast severity on spikes at 5, 7 and 11 days after inoculation (dai) and Rscon. Rachis were evaluated individually to determine the Rscon. Correlation analyzes were carried out between blast severity means on spikes of cultivars at 5, 7 and 11 dai and Rscon. The cultivars TBIO Mestre, TBIO Aton, ORS 1401, ORS 1403, ORS Destak, ORS Feroz, and CD 116 stood out for being classified in the statistical groups with the highest resistance to blast for the four variables considered in the study. The correlation between blast severity on spikes at 5, 7 and 11 dai and Rscon is at most moderate. ABSTRACT PoT. . (PoT) (a b (b sporulation rachis (Rscon) 1 Zadoks 65, 65 , 65) isolates 5 (dai Mestre Aton 1401 1403 Destak Feroz study moderate (PoT (Rscon 6 140 14

RESUMO: A utilização de cultivares de trigo resistentes é estratégia fundamental para minimizar danos causados pela brusone, doença causada pelo fungo Pyricularia oryzae Triticum (PoT). O objetivo do estudo foi avaliar (a) a reação à brusone de cultivares brasileiras de trigo e (b) verificar a correlação entre a severidade dos sintomas na espiga e a “taxa de esporulação de conídios de PoT por g de ráquis de espigas de trigo” (Txcon). Plantas de 16 cultivares de trigo foram conduzidas em casa-de-vegetação até o florescimento (estádio 65 da escala de Zadoks), quando as espigas das mesmas foram submetidas à inoculação com uma suspensão formada pela mistura de conídios de três isolados de PoT. As variáveis avaliadas foram a severidade de brusone nas espigas aos cinco, sete e 11 dias após a inoculação (dai) e a Txcon. A Txcon foi determinada de forma individualizada para os ráquis. Foram realizadas análises de correlação entre as médias de severidade de brusone nas espigas das cultivares aos cinco, sete e 11 dai e a Txcon. As cultivares TBIO Mestre, TBIO Aton, ORS 1401, ORS 1403, ORS Destak, ORS Feroz e CD 116 se destacaram por terem sido classificadas nos grupos estatísticos de maior resistência à brusone para as quatro variáveis consideradas no estudo. A correlação entre a severidade de brusone nas espigas aos cinco, sete e 11 dai e Txcon é, no máximo, moderada. RESUMO . (PoT) (a b (b taxa (Txcon) 1 casadevegetação casa vegetação estádio 6 Zadoks, Zadoks , Zadoks) cinco (dai Mestre Aton 1401 1403 Destak máximo moderada (PoT (Txcon 140 14

ABSTRACT The knowledge of correlations between multiple characteristics in plant breeding leads to more effective selection strategies. The path analysis allows refining these correlations and partitioning them into direct and indirect effects on the main variable. The path analysis becomes more effective when based on predicted genotypic values rather than phenotypic values. The objective was to evaluate correlations between the main agronomic characteristics of grapevine cultivation and their direct and indirect effects on yield per plant to improve selection strategies to reach superior progenies. A randomized complete block design was installed using four cultivars and two rootstocks, five repetitions, and plots of four plants. Data from three crop seasons were analyzed from a mixed model and genetic correlations were subject to the path analysis. A high and positive significant correlation was found between average fruit production and the number of clusters per plant. On the other hand, the average production per plant showed a low correlation to cluster width and height per grapevine. Wider and higher berries tend to increase berry fresh mass and therefore increase the contents of soluble solids and reducing sugars. Among the features, the number of clusters per plant has the strongest direct effect on fruit production in grape cultivars. Berry fresh mass, berry length, and berry width were indirectly influenced by the number of clusters and showed high heritability compared to yield and number of clusters. These characteristics could be used in indirect selection. variable progenies rootstocks repetitions plants hand sugars features length

ABSTRACT Shade-tolerant soybean genotypes will allow their greater adoption for use in agroforestry or intercropped systems in tropical and subtropical regions. These genotypes can be obtained from the selection of existing superior genotypes or through breeding programs. This study, was verified such genetic variability and select those genotypes with cultivation potential at reduced levels of photosynthetically active radiation (PAR). Morphophysiological and yield characteristics of 16 soybean genotypes were evaluated in two experiments conducted in a controlled environment and laid in a randomized block design with three replications. Genetic parameters, correlations and genetic diversity were estimated and path analysis was performed. The soybean cultivars used showed genetic variability with a high variation index and heritability, which is advantageous for the selection of superior cultivars. Leaf area showed genotypic correlation and had a direct effect on seed weight per plant, regardless of shading. Additionally, the number of pods, hypocotyl diameter, and leaf area, all indirectly contributed to seed weight per plant regardless of shading. Seven genotypes (NS7780, NS8338, NS7667, NS7901, RK8115, CZ37B43 and 8579RSF) were selected based on genetic gain obtained by the Mulamba and Mock index at the two levels of PAR reduction tested. Furthermore, five of these genotypes (CZ37B43, RK8115, NS7901, NS8338 and 8579RSF) were identified by the Unweighted Pair-Group method Arithmetic Mean, as suitable either as a shaded crop or, as parental materials in breeding programs. Shadetolerant Shade tolerant regions programs study PAR. . (PAR) 1 replications parameters performed heritability shading Additionally pods diameter NS7780, NS7780 NS (NS7780 NS7667 NS7901 RK8115 RK CZB CZ B CZ37B4 8579RSF RSF tested Furthermore CZ37B43, (CZ37B43 NS833 PairGroup Pair Group Mean (PAR NS778 (NS778 NS766 NS790 RK811 CZ37B (CZ37B4 NS83 NS77 (NS77 NS76 NS79 RK81 (CZ37B NS8 NS7 (NS7 RK8 (NS

Abstract Families of 38 month-old Calycophyllum spruceanum planted at three locations in the Peruvian Amazon were analyzed for breeding purpose. Significant differences were detected among families, sites and combined sites for the traits trunk diameter (D), height (H), number of nodes (NN), number of branches (NB) and survival rate (SUR), except for NN at site 2 and SUR at site 3 and combined sites. The correlation of the genotype-environment interaction was simple for D, H, NN, and SUR (0.77-0.89). Heritability was generally highest for D, H, NN, and NB (0.12-0.7), and the genotypic coefficient of variation ranged from 8.6-27.4%. Genetic correlations between these traits within and among sites ranged from 0.35-1.0. The selection of 75 trees from different families, within blocks and locations, suggested the possibility of genetic gains (6.1-29.8%) for D, H, NN, and NB, and that the remaining effective population size can be exploited in future selection cycles. monthold month old purpose families D , (D) H (H) (NN) (NB SUR, (SUR) genotypeenvironment genotype environment 0.770.89. 077089 0.77 0.89 . 0 77 89 (0.77-0.89) 0.120.7, 01207 0.12 0.7 12 7 (0.12-0.7) 8.627.4%. 86274 8.6 27.4%. 8 6 27 4 8.6-27.4% 0.351.0. 03510 0.35 1.0. 35 1 0.35-1.0 6.129.8% 61298 6.1 29.8% 29 (6.1-29.8% cycles (D (H (NN (SUR 770 0.770.89 07708 077 089 0.8 (0.77-0.89 120 0.120.7 0120 012 0.1 07 0. (0.12-0.7 627 8.627.4% 8627 86 8. 274 27.4% 8.6-27.4 351 0.351.0 0351 035 0.3 10 1.0 0.35-1. 129 6.129.8 6129 61 6. 298 29.8 (6.1-29.8 0.770.8 0770 08 (0.77-0.8 0.120. 01 (0.12-0. 62 8.627.4 862 27.4 8.6-27. 0.351. 03 1. 0.35-1 6.129. 612 29. (6.1-29. 0.770. (0.77-0. 0.120 (0.12-0 8.627. 27. 8.6-27 0.351 0.35- 6.129 (6.1-29 0.770 (0.77-0 (0.12- 8.627 8.6-2 6.12 (6.1-2 (0.77- (0.12 8.62 8.6- (6.1- (0.77 (0.1 (6.1 (0.7 (0. (6. (0 (6 (